PURPOSE OF REVIEW: Lesch-Nyhan Syndrome (LNS) is a metabolic disorder involving mutations in the HGPRT1 gene that result in hyperuricemia, intellectual disability, a dystonic movement disorder, and compulsive self-injury with self-mutilation. The aim of this review is to summarize recent research that documents the extended behavioral, neurologic, and neurocognitive phenotype in classic LNS, to describe milder variants of HGprt deficiency that do not self-injure and have less severe neurological and cognitive deficits, and to provide an update on treatment for associated psychiatric and behavioral disorders...

Pituitary adenomas make up 10% of intracranial tumors, but because of their location, they may go undetected for long periods. In this article, we report the case of a 68-year-old white man found deceased in his residence, who died of acute pituitary tumor apoplexy. He was known to have severe symptoms including acute headache, vision loss, and altered behavior. When found, his home was in extreme disarray, mimicking a possible assault. At autopsy, the decedent had multiple superficial abrasions about the upper and lower extremities, as well as a 2...

West syndrome hasn't been thoroughly investigated in Georgia. The purposes of our study were a) to assess the clinical and etiological peculiarities of West syndrome, based on MRI data and its relation to the long-term outcome; b) to assess the evolution of West syndrome and its relation to patient characteristics; c) to compare the efficacies of treatments with ACTH and antiepileptic drugs (AEDs); d) to evaluate the neuropsychological outcome after 12 and 24 months and their early predictors. We evaluated 31 patients (17 male, 14 female) with infantile spasms...

Invalid self-report and invalid performance occur with high base rates in attention deficit/hyperactivity disorder (ADHD; Harrison, 2006; Musso & Gouvier, 2014). Although much research has focused on the development and validation of symptom validity tests (SVTs) and performance validity tests (PVTs) for psychiatric and neurological presentations, less attention has been given to the use of SVTs and PVTs in ADHD evaluation. This introduction to the special section describes a series of studies examining the use of SVTs and PVTs in adult ADHD evaluation...

BACKGROUND: Alzheimer's disease (AD) patients present high variability in the rate of cognitive decline. Despite the wide knowledge on factors influencing dementia risk, little is known on what accounts for AD progression. Previous studies on this topic have mainly analyzed each factor separately without taking into account the interaction between genetic and non-genetic factors. OBJECTIVE: The aim of the present study is to evaluate the role of demographic, clinical, therapeutic, and genetic factors and their interaction on cognitive decline among newly diagnosed AD patients...

OBJECTIVE: To determine and interpret the range of normal deviation of the bucket test in healthy subjects Subjects and methods: Study design: Cross-sectional study in a secondary care center. INCLUSION CRITERIA: subjects ≥18 years old with no otologic or neurologic symptoms and normal complete neuro-otological examination. The subjective visual vertical was evaluated binocularly using the bucket test. Five measurements were made on the clockwise direction and five on the counterclockwise direction...

Background: Human immunodeficiency virus (HIV) and Treponema pallidum coinfection is relatively common and accounts for about 25% of primary and secondary syphilis. Tertiary syphilis in HIV-uninfected and HIV-infected patients is vanishingly rare. This is most likely due to early treatment of cases of primary and secondary syphilis. There is rapid progression to tertiary syphilis in HIV-infected patients. Case Presentation: A 49-year-old woman diagnosed with HIV Type 1 infection and cluster of differentiation 4 (CD4) count of 482 presented with a four-week history of multiple crusted plaques, nodules, and ulcers on her face, arms, and abdomen...

Depression of the Hoffman reflex (H-reflex) is used to examine spinal control mechanisms during exercise, fatigue, and vibration and in response to training. H-reflex depression protocols frequently use trains of stimuli; this is time-consuming and prevents instantaneous assessment of motor neuronal excitability. The purpose of this study was to determine if paired-pulse H-reflex depression is reproducible and whether paired-pulse stimulation adequately estimates the depression induced by the more traditional ten-pulse train...

Objectives: Influence of neurological status on the mortality rate of paraparetic/paralysed cats presenting after entrapment in a bottom-hung window was evaluated. It was hypothesised that (1) loss of deep pain sensation at admission would not be a negative prognostic factor for regaining motor function and that (2) mortality rate would be influenced by the severity of neurological grade upon admission. Methods: Clinical and pathological data of affected cats that presented at our institution between 2001 and 2012 for this specific trauma were collected retrospectively: breed, age, sex, last contact with owner (<3 hours and >3 hours), whether the cat was suffering from monoparesis or paraparesis/paraplegia, duration of hospitalisation, rectal temperature, surface temperature of the skin of the hindlimbs, femoral pulse and tone of the pelvic musculature...

We report a case of a left frontal lobe meningioma presenting in a woman with proteinuric preeclampsia in her first term pregnancy. The patient had a background of antepartum migraines that resolved in the second trimester of pregnancy. Postpartum, she required urgent surgery and sustained convulsions after surgery. She had no residual disease and has had another successful pregnancy. This case highlights the importance of cerebral imaging in the context of an atypical clinical course of preeclampsia. Although headaches are common in pregnancy and usually benign, other, more serious, diagnoses should be considered with atypical headaches, a change in the nature of the headache, and headaches that persist despite appropriate treatment...

Prognostication after cardiac arrest often depends primarily on neurological function, and characterizing the extent of neurological injury hinges on neurophysiological testing and clinical neurological examination. The presence of early posthypoxic myoclonus (PHM) following cardiac arrest had been invariably associated with poor outcome, but more recent studies have shown that those with early PHM may survive with good neurological function. Electroencephalographic patterns suggestive of severe brain injury may be more valuable than the presence of PHM itself in portending poor functional status, and phenotyping PHM may also be useful in delineating benign and malignant forms...

A 14-y-old bay Quarter Horse gelding was presented with progressive neurologic signs, elevated rectal temperature, and icterus for 3 d prior to death. Postmortem examination revealed icterus, large amounts of serosanguineous fluid in the abdominal cavity, widespread petechiae and ecchymoses in several organs, and a large, pale, and well-demarcated focus of necrosis in the liver. Histologically, there was coagulative necrosis surrounded by a rim of inflammatory cells and large numbers of gram-positive rods, which were identified as Clostridium novyi by immunohistochemistry...

BACKGROUND: Psychological resources, such as psychological well-being (PWB) and life satisfaction (LS) can aid individuals suffering from chronic illnesses to cope with their illness. The aim of this study was to investigate PWB, LS, quality of life (QoL), and distress in patients with Parkinson's disease (PD) and to compare them with healthy controls. METHODS: One hundred and thirteen individuals were recruited. Fifty of the participants suffered from PD, while 53 individuals reported other non-neurological diseases...

INTRODUCTION: In an effort to better understand why cognitively normal patients were referred to a memory clinic, we sought to identify features of "worried well" patients to better identify those more likely to be cognitively normal. METHODS: In total, 375 consecutive patients referred by primary care practitioners to a Rural and Remote Memory Clinic were categorized into two groups based on their neurologic diagnosis, "worried well" (cognitively normal, N=81) or "other" (patients with any neurologic diagnosis, N=294)...

BACKGROUND AND OBJECTIVES: Dietary protein intake has been associated with reduced risk of stroke. This study aimed to examine the relationship between premorbid dietary intake of protein and both stroke severity and neurological outcomes in patients with acute ischemic stroke. METHODS AND STUDY DESIGN: Consecutive patients with first-ever ischemic stroke in Jinling Hospital were screened for eligibility of participation. A validated foodfrequency questionnaire (FFQ) was performed to collect necessary data for calculating pre-stroke dietary intakes...

Importance: The androgen receptor inhibitor enzalutamide prolongs survival in men with metastatic castration-resistant prostate cancer (mCRPC). In controlled clinical studies, 0.5% (10 of 2051) of patients experienced seizure, but patients with a history of or risk factors for seizure were excluded. Men with mCRPC and seizure risk factors have an estimated seizure rate of 2.8 per 100 patient-years without enzalutamide exposure. Objective: To assess seizure incidence in patients with seizure risk factors who were receiving enzalutamide for mCRPC...

OBJECTIVE Being overweight or mildly obese has been associated with a decreased risk of death or hospitalization in patients with cardiovascular disease. Similarly, overweight patients admitted to an intensive care unit (ICU) have improved survival up to 1 year after admission. These counterintuitive observations are examples of the "obesity paradox." Does the obesity paradox exist in patients with intracerebral hemorrhage (ICH)? In this study the authors examined whether there was an association between obesity and functional outcome in patients with ICH...

Reduction of delay between onset and hospital arrival and adequate pre-hospital care of persons with acute stroke are important for improving chances of a favorable outcome. The objective is to recommend evidence-based practices for the management of patients with suspected stroke in the pre-hospital setting. The GRADE (Grading of Recommendations Assessment, Development and Evaluation) methodology was used to define the key clinical questions. An expert panel then reviewed the literature, established the quality of the evidence, and made recommendations...